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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Ehlers-Danlos syndrome cardiac valvular type
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Accession:DOID:0080730 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: Cardiac valvular form of Ehlers-Danlos syndrome;   Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome;   Ehlers-Danlos Syndrome, Arthrochalasis Type;   Ehlers-Danlos syndrome, cardiac valvular form;   Ehlers-Danlos syndrome, cardiac valvular form, autosomal recessive
 primary_id: MESH:C536200
 alt_id: OMIM:225320
For additional species annotation, visit the Alliance of Genome Resources.

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Ehlers-Danlos syndrome cardiac valvular type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome cardiac valvular type ClinVar PMID:2037280, PMID:7695699, PMID:7942841, PMID:8218237, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9295084, PMID:9443882, PMID:10931857, PMID:12590186, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:16786509, PMID:17078022, PMID:17309652, PMID:18412368, PMID:18553566, PMID:18704262, PMID:19344236, PMID:19358256, PMID:21249479, PMID:21567126, PMID:21667357, PMID:22589248, PMID:22753364, PMID:24390061, PMID:25086671, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26467025, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27748872, PMID:28378289, PMID:28492532, PMID:29543232 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by OMIM:225320
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
ClinVar Annotator: match by term: Ehlers-Danlos syndrome cardiac valvular type
PMID:3049731, PMID:3383844, PMID:7695699, PMID:7860070, PMID:8094076, PMID:8218237, PMID:9016532, PMID:9272740, PMID:9295084, PMID:9594376, PMID:15077201, PMID:16705691, PMID:16816023, PMID:17078022, PMID:19344236, PMID:21520333, PMID:22589248, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26604951, PMID:27519266, PMID:28492532, PMID:30311386 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Ehlers-Danlos syndrome 104
        Ehlers-Danlos syndrome cardiac valvular type 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          blood coagulation disease 624
            hemorrhagic disease 611
              vascular hemostatic disease 298
                Ehlers-Danlos syndrome 104
                  Ehlers-Danlos syndrome cardiac valvular type 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.